日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Newborn screening for spinal muscular atrophy in Ukraine: from pilot project to national programme

乌克兰新生儿脊髓性肌萎缩症筛查:从试点项目到国家计划

Olkhovych, Nataliia; Samonenko, Nataliia; Shkliarska, Tetiana; Hill, Serena; Grechanina, Olena; Veropotvelyan, Mykola; Makukh, Halyna; Barvinska, Oksana; Mytsyk, Nataliia; Dangouloff, Tamara; Ivanova, Tetiana; Servais, Laurent; Gorovenko, Nataliia

Fatal HLH in patients with X-linked lymphoproliferative disease 1 due to a novel variant in SH2D1A: case report

由SH2D1A基因新变异引起的X连锁淋巴增生性疾病1型患者致命性噬血细胞性淋巴组织细胞增生症:病例报告

Boyarchuk, Oksana; Volokha, Alla; Yarema, Nataliia; Dyvoniak, Olga; Tomashivska, Tetyana; Shymanska, Ivanna; Makukh, Halyna; Walter, Jolan E

Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022-2025

乌克兰新生儿重症联合免疫缺陷病和严重T细胞及B细胞淋巴细胞减少症筛查:2022-2025年结果的首次分析

Boyarchuk, Oksana; Makukh, Halyna; Volokha, Alla; Bondarenko, Anastasiia; Mytsyk, Nataliia; Barvinska, Oksana; Shymanska, Ivanna; Pohuliai, Yuliia; Veropotvelyan, Mykola; Haviley, Anastasia; Hurina, Marharyta; Romanyshyn, Yaryna; Trophymova, Maryna; Hrabovska, Iryna; Malko, Oksana; Tsanko, Tetiana; Tykholaz, Oksana; Lysytsia, Oleksandr; Samonenko, Nataliia; Olkhovych, Nataliia

Exome sequencing in 90 children with developmental delay: a single-center experience

对90名发育迟缓儿童进行外显子组测序:单中心经验

Boyarchuk, Oksana; Volianska, Liubov; Smashna, Olena; Makukh, Halyna

SLC26A2 Related Diastrophic Dysplasia in 42-Years Ukrainian Women

42岁乌克兰女性SLC26A2相关成骨不全症

Bondarenko, M; Haiboniuk, I; Solovei, I; Shargorodska, Y; Makukh, H

Correction to: Origins, admixture and founder lineages in European Roma

更正:欧洲罗姆人的起源、混血和创始人谱系

Martínez-Cruz, Begoña; Mendizabal, Isabel; Harmant, Christine; de Pablo, Rosario; Ioana, Mihai; Angelicheva, Dora; Kouvatsi, Anastasia; Makukh, Halyna; Netea, Mihai G; Pamjav, Horolma; Zalán, Andrea; Tournev, Ivailo; Marushiakova, Elena; Popov, Vesselin; Bertranpetit, Jaume; Kalaydjieva, Luba; Quintana-Murci, Lluis; Comas, David

Incidence of SARS-CoV-2 in people with cystic fibrosis in Europe between February and June 2020

2020年2月至6月欧洲囊性纤维化患者中SARS-CoV-2感染率

Naehrlich, Lutz; Orenti, Annalisa; Dunlevy, Fiona; Kasmi, Irena; Harutyunyan, Satenik; Pfleger, Andreas; Keegan, Svetlana; Daneau, Géraldine; Petrova, Guergana; Tješić-Drinković, Duška; Yiallouros, Panayiotis; Bilkova, Alena; Olesen, Hanne Vebert; Burgel, Pierre-Régis; Parulava, Tsitsino; Diamantea, Filia; Párniczky, Andrea; McKone, Edward F; Mei-Zahav, Meir; Salvatore, Marco; Colombo, Carla; Aleksejeva, Elina; Malakauskas, Kestutis; Schlesser, Marc; Fustik, Stojka; Turcu, Oxana; Zomer-van Ommen, Domenique; Wathne, Anita Senstad; Woźniacki, Łukasz; Pereira, Luísa; Pop, Liviu; Kashirskaya, Nataliya; Rodić, Milan; Kayserova, Hana; Krivecs, Uro; Mondejar-Lopez, Pedro; de Monestrol, Isabelle; Dogru, Deniz; Makukh, Halyna; Cosgriff, Rebecca; van Koningsbruggen-Rietschel, Silke; Jung, Andreas

Factors for severe outcomes following SARS-CoV-2 infection in people with cystic fibrosis in Europe

欧洲囊性纤维化患者感染SARS-CoV-2后出现严重后果的因素

Jung, Andreas; Orenti, Annalisa; Dunlevy, Fiona; Aleksejeva, Elina; Bakkeheim, Egil; Bobrovnichy, Vladimir; Carr, Siobhán B; Colombo, Carla; Corvol, Harriet; Cosgriff, Rebecca; Daneau, Géraldine; Dogru, Deniz; Drevinek, Pavel; Vukic, Andrea Dugac; Fajac, Isabelle; Fox, Alice; Fustik, Stojka; Gulmans, Vincent; Harutyunyan, Satenik; Hatziagorou, Elpis; Kasmi, Irena; Kayserová, Hana; Kondratyeva, Elena; Krivec, Uroš; Makukh, Halyna; Malakauskas, Kestutis; McKone, Edward F; Mei-Zahav, Meir; de Monestrol, Isabelle; Olesen, Hanne Vebert; Padoan, Rita; Parulava, Tsitsino; Pastor-Vivero, Maria Dolores; Pereira, Luísa; Petrova, Guergana; Pfleger, Andreas; Pop, Liviu; van Rens, Jacqui G; Rodic, Milan; Schlesser, Marc; Storms, Valérie; Turcu, Oxana; Woz Niacki, Lukasz; Yiallouros, Panayiotis; Zolin, Anna; Downey, Damian G; Naehrlich, Lutz

Sarcotubular Myopathy Due to Novel TRIM32 Mutation in Association with Multiple Sclerosis

由新型TRIM32突变引起的肌管性肌病与多发性硬化症相关

Marchuk, Margarita; Dovbonos, Tetiana; Makukh, Halyna; Semeryak, Orest; Sharhorodska, Yevheniya

Clinical significance of microRNA-200 and let-7 families expression assessment in patients with ovarian cancer

microRNA-200 和 let-7 家族表达评估在卵巢癌患者中的临床意义

Ferneza, Severyn; Fetsych, Markiyan; Shuliak, Roman; Makukh, Halyna; Volodko, Natalia; Yarema, Roman; Fetsych, Taras